Search PubMed⌕ Search

Biomedical subjects

A C Berry

Publications and source records attributed to A C Berry.

At least 19 recordsLinked to original sources
PubMed1998

FISH analysis in patients with clinical diagnosis of Williams syndrome.

Williams syndrome is a rare neurodevelopmental disorder with variable phenotypic expression and a contiguous gene syndrome caused by deletion of the elastin gene. In our study, hemizygosity at the elastin locus was investigated using FISH analyses in 16 sporadic cases with a firm clinical diagnosis of Williams syndrome, and the characteristic features were evaluated. Fourteen patients were found to have deletions; 2 further patients did not have deletions of the elastin gene, but did have the clinical features. The presence of two copies of the elastin gene locus in a patient does not rule out Williams syndrome as a diagnosis. Since deletion of the elastin gene, which continues to be a useful confirmatory diagnostic test, cannot account for several features found in Williams syndrome, the non-deletion patients will be valuable in further delineation of the critical region responsible for the Williams syndrome phenotype.

Child↗
PubMed1998

Deletion of chromosome 3q proximal region gives rise to a variable phenotype.

We report two new cases with interstitial deletions of chromosome 3. Both had breakpoints established as q12q21. Despite an apparently identical abnormal karyotype, their phenotypes were different although hypotonia, severe developmental delay, lack of speech, high arched palate and pointed chin were common features. One patient had corpus callosum agenesis (ACC), also present in two of the only four previously reported cases with a deletion in this region.

Abnormalities, Multiple↗
PubMed1998

Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia.

We previously identified a nonsense mutation (Cys545Stop) in the paternal human LH/CG receptor (hLHR) allele in a family with two 46,XY children afflicted with Leydig cell hypoplasia. This mutation abolished the signal transduction capability of the affected hLHR. We have now examined all coding exons and the transcript of both alleles of the hLHR gene of the affected children. A 33-bp in-frame insertion was found in the maternal hLHR allele. This insertion occurred between nucleotide 54 and 55 and might be the result of a partial gene duplication. Genomic DNA-PCR showed that this defective maternal hLHR allele was inherited by the two affected children. However, examination of the inheritance of the 935-A/G polymorphism of the hLHR by genomic- and RT-PCR indicated that the maternal hLHR allele was not expressed in cultured fibroblasts of the patients. The effect of the in-frame insertion on the biological activity of the hLHR was examined by expressing the mutated hLHR construct, generated by site-directed mutagenesis, in HEK 293 cells. The expression of the mRNA for the mutant hLHR in HEK 293 cells was not affected. Response of cells expressing the mutated hLHR to hCG stimulation was impaired as demonstrated by reduced intracellular cAMP biosynthesis. This change in signal transduction was the result of a profound reduction in hormone binding at the cell surface due to altered expression and processing of the mutated receptor. We conclude that Leydig cell hypoplasia in this family is the result of compound heterozygous loss-of-function mutations of the hLHR gene.

Alleles↗
PubMed1998

Four cases of amelia of the upper limb associated with anal atresia--is this VACTERL with extreme limb involvement?

Amelia is an extremely rare abnormality with a highest reported incidence of 1 in 67,500 liveborn infants. We now report four cases in each of which amelia involving one upper limb occurred in association with anal atresia. The pattern of other abnormalities present in these cases suggests that this combination of amelia and anal atresia falls within the spectrum of the VACTERL association.

Abnormalities, Multiple↗
PubMed1997

Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation.

We report seven new patients with clinical features of the Smith-Magenis syndrome (SMS) and small de novo interstitial deletions of 17p11.2. Four of these patients had been referred for fragile-X studies, but standard G-banded chromosome analysis routinely carried out in addition to the fragility tests revealed the microdeletion in chromosome 17. A relatively high proportion (approximately 2%) of patients referred to this Centre for fragile-X investigation are found to have a chromosome abnormality other than fra(X)(q27.3), half of them (approximately 1%) with an unbalanced chromosome complement. The four of our seven patients with deletion 17p11.2 constitute 25% of those with an unbalanced karyotype, and establish this microdeletion as the most common chromosome abnormality-except for fra(X)(q27.3)-in patients referred for fragile-X screening. The data indicate that standard karyotyping should be offered to patients with this referral indication, in addition to any molecular or chromosome fragility tests for fragile X. We also recommend that the short arm of chromosome 17 be examined critically in these patients. Moderate quality and resolution of banding (450-550 bands per haploid chromosome set) are adequate for detection of the 17p11.2 deletion.

Abnormalities, Multiple↗
PubMed1997

Partial trisomy of 15q due to inserted inverted duplication.

A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3 --> 15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan-like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.

Adolescent↗
PubMed1997

Monozygotic twins discordant for the oculo-oto-radial syndrome (IVIC syndrome).

Monozygotic twins are rarely completely identical despite their origin from a single zygote. The twinning process itself, or the very early intrauterine environment must provide the clues to explain this developmental dilemma. We present here discordant monozygotic twin girls, one of whom was diagnosed having IVIC (Oculo-oto-radial) syndrome on the basis of hand abnormalities and hearing loss but her twin sister has only strabismus. The family has at least 7 apparently and 2 possible affected members (gene carriers) over four generations, the majority being only midly affected. The 2 girls, whose monozygosity has been proved using independent DNA loci, show marked variability in expression, showing that for this gene modification of expression must be epigenetic or environmental rather than genetic.

Child, Preschool↗
PubMed1996

A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density.

A fetus diagnosed by sonography at 20 weeks' gestation had multiple skeletal abnormalities. The main features were absent ossification of the skull and cervical and upper thoracic vertebral bodies; short, angulated femora, tibiae, radii and ulnae but normal humeri; platyspondyly; trident-shaped acetabular roofs; sclerotic bands on the iliac wings and scapulae; clavicular hooks; and overall, mixed bone density. We suggest that this is a new chondrodysplasia which, since the parents are first cousins, could follow autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1995

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.

Leydig cell hypoplasia (LCH) is a form of male pseudohermaphroditism in which Leydig cell differentiation and testosterone production are impaired. This report describes the first case of a nonsense mutation (A1635C) in exon 11 of the human luteinizing hormone receptor (hLHR) gene in two sisters with LCH. This mutation causes loss of function of the receptor by introducing a stop codon at residue 545 in transmembrane helix 5 of the hLHR. Surface expression of the truncated hLHR (hLHR-t545) in human embryonic kidney cells stably transfected with cDNA encoding hLHR-t545 was diminished compared to the wild-type hLHR and hCG-induced cAMP accumulation was impaired. These results establish that single base mutations in exon 11 of the hLHR gene can produce inactivation as well as activation of the hLHR. Furthermore, they demonstrate that functional domains between transmembrane helix 5 and the C-terminal cytoplasmic tail of the hLHR are required for normal cell surface expression of the receptor and signal transduction.

Base Sequence↗
PubMed1995

Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis.

Two half-brothers are described who had developmental delay and minor dysmorphic features, both of whom had operative treatment for pyloric stenosis. They had identical unbalanced karyotypes: 46,XY,-17,+der(17)t(8;17) (q24;q25). This was inherited from their mother who had the balanced form of the translocation. She was of normal intelligence and had no history of pyloric stenosis herself or in her extended family. It is suggested that the unbalanced chromosomal rearrangement could have been associated with the development of pyloric stenosis in these two brothers.

Adult↗
PubMed1995

A fetus with an X;1 balanced reciprocal translocation and eye disease.

A 19 week female fetus is described with a de novo X;1 reciprocal balanced translocation, with the breakpoint on the X chromosome at Xp11.4, and eye pathology consistent with the early stages of Norrie disease. The fetus seems to be an example of a female manifesting an X linked recessive disease, and it was shown that the normal X chromosome was completely inactivated in all cells examined. Norrie disease has been mapped to Xp11.3, and fluorescence in situ hybridisation studies showed that the Norrie disease gene had not obviously been disrupted. Mutation screening by SSCP analysis showed no aberrant fragments of the coding region of the gene. Several eye disease genes map to the same region of the X chromosome, but are excluded on grounds of pathology. One possibility is that this fetus has a Norrie-like eye disease caused by the mutation of another gene located at Xp11.4. If this is so, there are implications for prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1993

Venous ulceration in males with sex chromosome abnormalities.

Two patients with Klinefelter's syndrome and three with 47,XYY who had venous ulcers, and one patient with 47,XYY and a post thrombotic limb are described. Sex chromosome abnormalities should be suspected in tall males with leg ulcers, especially those who have no progeny and are relatively young. Venous ulcers may be more common in males with 47,XYY.

Adult↗
PubMed1992

Chondrodysplasia punctata: another possible X-linked recessive case.

A 22-week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of chondrodysplasia punctata (CP), and metacarpal shortness and tiny pyramidal phalanges. The several causally different forms of CP are tabulated. Differential diagnosis suggests that the present case, which does not have limb shortness, could be a case of X-linked recessive brachytelephalangic chondrodysplasia punctata.

Abnormalities, Multiple↗