Inheritance of brachydactyly type D (BD-D) was studied in two unreported Caucasian family pedigrees and in 36 previously reported family pedigrees. The inheritance pattern was characteristic of a single autosomal dominant gene with incomplete penetrance. Using the proportion of individuals exhibiting the trait as the index, penetrance was sex influenced, being complete in females and approximately 62 percent in males. Expression of BD-D in both females and males was bilateral (both thumbs) for approximately three-fourths and unilateral (either right or left thumb) for approximately one-fourth of the individuals.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/oxfordjournals.jhered.a109937 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.
Am J Hypertens
January 2025
Department of Medicine, College of Medicine, Northeast Ohio Medical University, Rootstown, OH, USA.
Hypertension is a growing concern worldwide, with increasing prevalence rates in both children and adults. Most cases of hypertension are multifactorial, with various genetic, environmental, socioeconomic, and lifestyle influences. However, monogenic hypertension, a blanket term for a group of rare of hypertensive disorders, is caused by single-gene mutations that are typically inherited in an autosomal dominant fashion, and ultimately disrupt normal blood pressure regulation in the kidney or adrenal gland.
View Article and Find Full Text PDFA Novel Maternally Inherited Variant in a Family With Hyperphagia and Obesity: 3 Cases.
JCEM Case Rep
August 2024
Department of Paediatric Endocrinology, Barts Health NHS Trust-Royal London Children's Hospital, Whitechapel Road, London E1 1FR, UK.
Article Synopsis
- Recent studies found genetic variants in 1% of patients without pseudohypoparathyroidism, highlighting a new missense variant, c.791A > C, p.(Asp264Thr), linked to obesity and hyperphagia in a family.
- A 6-year-old girl and her 12-year-old brother both exhibited obesity, hyperphagia, and developmental delays, alongside physical traits like brachydactyly and macrocephaly.
- Functional tests revealed that the mutant GNAS gene resulted in reduced cAMP production when stimulated, indicating potential new genetic links to obesity, and suggesting testing for PHP1A in children may be necessary even when traditional symptoms are absent.
GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.
Am J Med Genet A
November 2024
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Article Synopsis
- Lacrimal punctal agenesis is a rare condition linked to a variant in the GPC4 gene, which is associated with Keipert syndrome in a 3-year-old patient.
- This patient exhibited unique craniofacial features, mild developmental delays, and intellectual disabilities, with the absence of lacrimal puncta being a new finding in relation to the syndrome.
- The study suggests that GPC4 is significant in the development of lacrimal structures and recommends considering Keipert syndrome in cases of lacrimal punctal agenesis.
Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype.
Eur J Med Genet
August 2024
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. Electronic address:
Article Synopsis
- - CCP110 (centriolar coiled coil protein 110) is a crucial protein in the centrosome that aids in cell cycle regulation and the start of ciliogenesis, but no congenital disorders linked to it have been identified in humans until now.
- - Mice lacking functional Ccp110 show numerous organ defects that mimic human "ciliopathies," indicating a possible connection between mutant CCP110 and severe health issues.
- - A 7-month-old boy with growth failure and skeletal anomalies was found to have two harmful variants of CCP110, suggesting that CCP110 mutations may cause similar developmental disorders in humans.
[Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
May 2024
Genetic Testing Center, the Women and Children's Hospital Affiliated to Qingdao University, Qingdao, Shandong 266034, China.
Objective: To explore the genetic basis for a Chinese pedigree affected with Brachydactyly type B1 (BDB1) through whole exome sequencing (WES).
Methods: A BDB1 pedigree admitted to the Affiliated Women and Children's Hospital of Qingdao University on June 25, 2021 was selected as the study subject. Clinical data of the pedigree was collected with informed consent.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!