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PubMedDate not supplied

Clinical characteristics and genetic screening of an extended family with MEN2A.

MEN-2A is characterized by medullary thyroid carcinoma (MTC) with pheochromocytoma and sometimes parathyroid adenoma. In affected members of the family, the risk of MTC is about 100%. Biochemical screening allows tumors to be detected early but even at this stage treatment is not always curative. Missense mutations in exon 10 and 11 of the RET proto-oncogene are associated with MEN-2A. Early detection of this mutation by DNA analysis allows the identification of the carriers of the gene. We performed genetic screening in 88 members of an extended family with MEN-2A and found 18 members positive for RET mutation (Cys634Gly). Only three of these 18 RET positive cases had a previous diagnosis of medullary cancer and/or pheochromocytoma. Up to now, 12 of the RET positive cases have undergone thyroidectomy. There was extended disease with cervical lymph node metastasis in 6 of them, bilateral medullary microcancer in 3 and c-cell hyperplasia in the remaining 3. Three of the 18 RET positive patients had also pheochromocytoma. Primary hyperparathyroidism was present in only one patient. The mean age of diagnosis of medullary cancer was between 25-50 yr and mean age of death was between 35-95 yr in affected members of the family. The family had many other affected members in other cities in Turkey and in other countries throughout the world from Australia to the Netherlands. So this family is perhaps one of the most extended families with MEN-2A.

Adrenal Gland Neoplasms↗
PubMed1975

Residential care of the child-mother and her infant: an extended family concept.

A residential programs for single, young mothers and their infants uses the concept of a new extended family to achieve several purposes: training the mothers in parenting skill, giving them a chance of complete educations or vocational preparation, and providing care and developmental opportunity for the infants.

Adolescent↗
PubMed2005

An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

Gain-of-function mutations in LRP5 have been shown to cause high BMD disorders showing variable expression of some clinical symptoms, including torus palatinus and neurological complications. In an extended family, we were able to add craniosynostosis and developmental delay to the clinical spectrum associated with LRP5 mutations. We report on an extended four-generation family with 13 affected individuals (7 men and 6 women) in which an autosomal dominant type of osteosclerosis segregates. Osteosclerosis was most pronounced in the cranial base and calvarium, starting in early childhood with variable expression and a progressive character. Craniosynostosis at an early age was reported in four affected family members (two males and two females). The patients also presented with dysmorphic features (macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones, prominent jaw). They have normal height and proportions. Neurological complications like entrapment of cranial nerves resulting in optical nerve atrophy, hearing loss, and facial palsy were reported in two individuals. A mild developmental delay was reported in three affected individuals. None of the patients have torus palatinus, increased rate of fractures, osteomyelitis, hepatosplenomegaly, or pancytopenia. A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. To our knowledge, this is the first report in the literature of patients presenting with autosomal dominant osteosclerosis in whom a variable expression of craniosynostosis, macrocephaly, and mild developmental delay is observed, which is most likely associated with a mutation in the LRP5 gene. These phenotypes can therefore be added to the clinical spectrum of LRP5-associated bone disorders.

Adult↗
PubMed2006

A genome-wide linkage scan for genes controlling variation in renal function estimated by serum cystatin C levels in extended families with type 2 diabetes.

We performed a variance components linkage analysis of renal function, measured as glomerular filtration rate (GFR), in 63 extended families with multiple members with type 2 diabetes. GFR was estimated from serum concentrations of cystatin C and creatinine in 406 diabetic and 428 nondiabetic relatives. Results for cystatin C were summarized because they are superior to creatinine results. GFR aggregates in families with significant heritability (h(2)) in diabetic (h(2) = 0.45, P < 1 x 10(-5)) and nondiabetic (h(2) = 0.36, P < 1 x 10(-3)) relatives. Genetic correlation (r(G) = 0.35) between the GFR of diabetic and nondiabetic relatives was less than one (P = 0.01), suggesting that genes controlling GFR variation in these groups are different. Linkage results supported this interpretation. In diabetic relatives, linkage was strong on chromosome 2q (logarithm of odds [LOD] = 4.1) and suggestive on 10q (LOD = 3.1) and 18p (LOD = 2.2). In nondiabetic relatives, linkage was suggestive on 3q (LOD = 2.2) and 11p (LOD = 2.1). When diabetic and nondiabetic relatives were combined, strong evidence for linkage was found only on 7p (LOD = 4.0). In conclusion, partially distinct sets of genes control GFR variation in relatives with and without diabetes on chromosome 2q, possibly on 10q and 18p in the former, and on 7p in both. None of these genes overlaps with genes controlling variation in urinary albumin excretion.

Adult↗
PubMed1999

Relationships within the aldehyde dehydrogenase extended family.

One hundred-forty-five full-length aldehyde dehydrogenase-related sequences were aligned to determine relationships within the aldehyde dehydrogenase (ALDH) extended family. The alignment reveals only four invariant residues: two glycines, a phenylalanine involved in NAD binding, and a glutamic acid that coordinates the nicotinamide ribose in certain E-NAD binary complex crystal structures, but which may also serve as a general base for the catalytic reaction. The cysteine that provides the catalytic thiol and its closest neighbor in space, an asparagine residue, are conserved in all ALDHs with demonstrated dehydrogenase activity. Sixteen residues are conserved in at least 95% of the sequences; 12 of these cluster into seven sequence motifs conserved in almost all ALDHs. These motifs cluster around the active site of the enzyme. Phylogenetic analysis of these ALDHs indicates at least 13 ALDH families, most of which have previously been identified but not grouped separately by alignment. ALDHs cluster into two main trunks of the phylogenetic tree. The largest, the "Class 3" trunk, contains mostly substrate-specific ALDH families, as well as the class 3 ALDH family itself. The other trunk, the "Class 1/2" trunk, contains mostly variable substrate ALDH families, including the class 1 and 2 ALDH families. Divergence of the substrate-specific ALDHs occurred earlier than the division between ALDHs with broad substrate specificities. A site on the World Wide Web has also been devoted to this alignment project.

Aldehyde Dehydrogenase↗
PubMed1991

Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism.

We have analyzed the tyrosinase coding region of three individuals having Type IA OCA within an extended family using genomic DNA amplification and dideoxy sequencing. Two of the affected individuals are dizygotic twins. All three have a common missense mutation at codon 81 (Pro----Leu) within exon I. The twins have a second missense mutation at codon 371 (Asn----Thr) within exon III and the third individual has a second missense mutation at codon 47 (Gly----Asp) within exon I. For each of these three individuals, the loss of enzyme function is the result of two different mutations, showing that they are compound heterozygotes of two mutant tyrosinase alleles.

Albinism, Oculocutaneous↗
PubMed1976

Psychiatric problems within the satellite-extended families of Turkey.

The many Turkish villagers who now migrate to large Turkish cities or enter the European labor force try to create models of the extended families they leave behind. Their satellite families necessarily drift away from tradition, however, in the direction of greater independence. This process often triggers psychiatric symptom formation.

Adaptation, Psychological↗
PubMed1997

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.

Thus far, 13 genes for autosomal dominant hearing loss have been localized to specific chromosomal regions, but none of the genes has been cloned. Only a single family has been linked to each of these loci, with the exception of DFNA2. DFNA2 was originally mapped in two extended families originating from Indonesia and the United States. In this study we report linkage to DFNA2 in three additional large families with autosomal dominant hearing loss from Belgium and The Netherlands. These five DFNA2 families show a similar progressive sensorineural hearing loss, starting in the high frequencies and also affecting the middle and low frequencies later in life. Combining the information from all linked families, the candidate region that is most likely to contain the DFNA2 gene was reduced to a 1.25-Mb region between markers D1S432 and MYCL1. Different haplotypes segregating with the hearing loss were found in all five families, suggesting that different mutations are present in the same gene. These results indicate that DFNA2 is most likely an important gene for autosomal dominant hearing loss.

Alleles↗
PubMed2004

Epidemiologic linkage and public health implication of a cluster of severe acute respiratory syndrome in an extended family.

Severe acute respiratory syndrome (SARS) is highly contagious. Mandatory home confinement of 10 days has generally been recommended to quarantine close contacts of SARS cases. We report the epidemiologic linkage of SARS within an extended family. The estimated incubation period was beyond 10 days in some of the affected members. One child was identified as the source of SARS transmission to another household.

Adolescent↗
PubMed1991

Extended family networks of older black adults.

The correlates of three characteristics of familial networks (i.e., residential proximity, family affection, and family contact) were examined among a national sample of older Black Americans. Overall, the findings indicated high levels of interaction and strong emotional bonds between older Black adults and their extended families. While the oldest respondents were less likely to reside near immediate family and other relatives, there were no age differences in levels of contact and emotional closeness. Having an adult child and proximity of relatives facilitated the emotional and social integration of older Black adults in family networks.

Black or African American↗
PubMed2003

Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration.

To examine the genetic basis of age-related macular degeneration (ARMD), a degenerative disease of the retinal pigment epithelium and neurosensory retina, we conducted a genomewide scan in 34 extended families (297 individuals, 349 sib pairs) ascertained through index cases with neovascular disease or geographic atrophy. Family and medical history was obtained from index cases and family members. Fundus photographs were taken of all participating family members, and these were graded for severity by use of a quantitative scale. Model-free linkage analysis was performed, and tests of heterogeneity and epistasis were conducted. We have evidence of a major locus on chromosome 15q (GATA50C03 multipoint P=1.98x10-7; empirical P< or =1.0x10-5; single-point P=3.6x10-7). This locus was present as a weak linkage signal in our previous genome scan for ARMD, in the Beaver Dam Eye Study sample (D15S659, multipoint P=.047), but is otherwise novel. In this genome scan, we observed a total of 13 regions on 11 chromosomes (1q31, 2p21, 4p16, 5q34, 9p24, 9q31, 10q26, 12q13, 12q23, 15q21, 16p12, 18p11, and 20q13), with a nominal multipoint significance level of P< or =.01 or LOD > or =1.18. Family-by-family analysis of the data, performed using model-free linkage methods, suggests that there is evidence of heterogeneity in these families. For example, a single family (family 460) individually shows linkage evidence at 8 loci, at the level of P<.0001. We conducted tests for heterogeneity, which suggest that ARMD susceptibility loci on chromosomes 9p24, 10q26, and 15q21 are not present in all families. We tested for mutations in linked families and examined SNPs in two candidate genes, hemicentin-1 and EFEMP1, in subsamples (145 and 189 sib pairs, respectively) of the data. Mutations were not observed in any of the 11 exons of EFEMP1 nor in exon 104 of hemicentin-1. The SNP analysis for hemicentin-1 on 1q31 suggests that variants within or in very close proximity to this gene cause ARMD pathogenesis. In summary, we have evidence for a major ARMD locus on 15q21, which, coupled with numerous other loci segregating in these families, suggests complex oligogenic patterns of inheritance for ARMD.

Aged↗
PubMed1991

Chlorophyll a/b-binding proteins: an extended family.

A large proportion of the chlorophyll in a plant is engaged in harvesting light energy and transferring it to the photochemical reaction centres. These 'antenna' chlorophylls are non-covalently bound to specific proteins to form chlorophyll-protein complexes. The chlorophyll a/b-binding (CAB) polypeptides are encoded by an extended family of nuclear genes. It has recently been discovered that other proteins not known to bind chlorophyll, the early light-inducible proteins (ELIPs), are also related and could be considered part of this family. We suggest that the latter proteins may be involved in pigment biosynthesis or in assembly of the thylakoid membrane.

Chlorophyll↗
PubMed2002

Feasibility of thalassaemia control by extended family screening in Indian context.

Thalassaemia is one of the most common genetic disorders in India. Its control is possible by screening of general population for carrier status and by antenatal diagnosis in couples at risk of having a child with thalassaemia. This study explored the feasibility of screening the extended family to detect carriers to prevent birth of thalassaemic children and identified the barriers to its acceptance. One hundred parents with thalassaemic child on a regular hypertransfusion programme were interviewed using a pre-designed questionnaire. The results showed that 96% of them were more willing to share information on their thalassaemic children with relatives and friends. Relatives of 62 parents accepted the risk of being a carrier, and 14 families got themselves tested for it so far. Another 34 families could not get themselves tested due to non-availability of screening facilities in the nearby town, high cost of the test, and lack of sufficient motivation. It is concluded that, by and large, parents have no reservations in sharing information on their affected children with their relatives, but the communication needs to be improved for all families to accept the risk of having a thalassaemic child. There is also a need to make the screening more readily available and to motivate high-risk groups through awareness-raising programmes.

Adult↗
PubMed2000

Beyond parent education: the impact of extended family dynamics in deaf education.

The impact of childhood deafness on family dynamics, with particular attention given to the influence and role of grandparents, is discussed. Models for the successful involvement of parents in the education of deaf children are already in place and can be applied to extended family, especially grandparents, with promising results. An informal questionnaire focusing on grandparents' support, involving 10 hearing parents of deaf infants and preschool children, is reviewed.

Adult↗
PubMed2004

Psychosocial variables in children and teens of extended families identified through bipolar affective disorder probands.

OBJECTIVES: This multi-site study investigated the frequency of risk-related variables for developing an affective disorder using a within-pedigree control group. We wished to determine the effect of life events, social relationships, self-perceived competence, and aspects of home environment for youngsters from extended families with loading for bipolar disorder. Using a within-family contrast group, we address the following two issues: (1) Do offspring or their parents from families who do and do not have an affected parent report differences (i) in home environment? (ii) in frequency and type of offspring life events? and (iii) in social relations and self-perception? and (2) Do children or their parents who do or do not have an affective disorder report differently on these areas? METHODS: Juvenile offspring (n = 50) and their parents from 14 bipolar pedigrees were assessed. Structured interviews and self- or parent-reported instruments were used to compare offspring with an affected first-degree relative to those without and to compare offspring with or without an affective disorder. RESULTS: Only one significant psychosocial difference was found between offspring with or without a parent with an affective disorder but several were found between offspring who themselves did or did not have an affective disorder. These differences are in the areas of the need for discipline, social support, and dependent negative life events. CONCLUSIONS: The findings identify potential early psychosocial markers for affective disorder in high risk offspring.

Adolescent↗
PubMed1990

Female autonomy and child nutritional status: the extended-family residential unit in Amman, Jordan.

This study explores the hypothesis that the mother's position within household power relations--her autonomy with respect to other household members--influences her ability to provide for the health of her children. We argue that in the context of the Arab Middle East, a woman's structural position within the household is a good indicator of her relative autonomy: if she is the daughter-in-law in a vertically extended residential unit, she has less autonomy than if she is head or co-head of household. Our analysis is based on data collected from 1341 households in 1985 as a part of the Follow-up Health and Population Assessment of four urban settlements in Amman, Jordan. They include measures of the child's weight and age, plus a variety of socioeconomic factors. We analyze the effect of the mother's autonomy on child nutritional status within a multiple regression framework that controls for rival hypotheses. In particular, we investigate whether it is the availability of other potential child-care substitutes, particularly the grandmother, that influences child nutrition rather than household structure. We also look at household income, mother's education, the area of residence, and the child's sex. Our results show a strong negative influence associated with having a mother whose autonomy in the household is low. This effect does not disappear when mother's age and education, and household size and composition are taken into consideration. Nor is it a proxy for the higher household incomes characteristic of extended-family residential units with their multiple earners.

Child↗
PubMed2006

The extended family of neutral sphingomyelinases.

The neutral sphingomyelinases (N-SMases) are considered major candidates for mediating the stress-induced production of ceramide, and N-SMase activity has been identified, characterized, and cloned from bacteria, yeast, and mammalian cells. Although the level of identity between these enzymes is low, a number of key residues thought to be involved in metal binding and catalysis are conserved. This has led to the suggestion of a common catalytic mechanism, and thus, these enzymes are considered to form an extended family of N-SMases. Despite considerable research into N-SMase activity in cell culture and various tissues, the lack, until recently, of molecular identification of specific N-SMase enzymes had precluded specific insights into the regulation, physiological, and pathological roles of these proteins. In this review, we summarize, for the first time, current knowledge of the N-SMase family, focusing on cloned members from bacteria, yeast, and mammalian cells. We also briefly consider the major future directions for N-SMase research which promises highly significant and specific insight into sphingolipid-mediated functions.

Amino Acid Sequence↗