X-linked dominant chondrodysplasia Chassaing Lacombe type

Last update 01 Nov 2024

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Synonyms

X-linked dominant chondrodysplasia Chassaing Lacombe type, X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder), X-linked dominant chondrodysplasia, Chassaing-Lacombe type

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Introduction

A rare genetic bone disorder with characteristics of chondrodysplasia, intrauterine growth retardation, hydrocephaly and facial dysmorphism in the affected males. The disease is severe and probably lethal in males, the clinical picture in females is less severe. The disease is due to a mutation in the histone deacetylase 6 HDAC6 gene (Xp11.3-q13.1) that causes a nucleotide substitution in the 3' untranslated region (UTR) of the HDAC6 transcript. This mutation lies in the seed sequence of microRNA-433 (hsa-miR-433) and abolishes the post-transcriptional regulation of HDAC6 expression by hsa-miR-433, resulting in the overexpression of the HDAC6 protein. Inheritance is X-linked dominant.

100 Clinical Results associated with X-linked dominant chondrodysplasia Chassaing Lacombe type

100 Translational Medicine associated with X-linked dominant chondrodysplasia Chassaing Lacombe type

0 Patents (Medical) associated with X-linked dominant chondrodysplasia Chassaing Lacombe type

Literatures (Medical) associated with X-linked dominant chondrodysplasia Chassaing Lacombe type

01 May 2023·Pediatric Dermatology

Urogenital presentation of a male patient with focal dermal hypoplasia

Article

Author: Nguyen, Khoa ; Sosa, Valentina

AbstractFocal dermal hypoplasia (FDH) is a rare X‐linked dominant syndrome characterized by streaky cutaneous atrophy in a blaschkoid distribution, skeletal dysplasias, and ocular abnormalities. Here, we report hypospadias and chordee identified in a male patient with molecularly confirmed FDH. This report highlights a new clinical manifestation of male patients with FDH.

01 Jan 2023·European Journal of Human Genetics

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts

Article

Author: Rosenfeld, Eldar ; Elhanan, Emil ; Mezad-Koursh, Daphna ; Zur, Dinah ; Ben-Shachar, Shay ; Bachar Zipori, Anat

Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by the involvement of the eyes, face, teeth, and heart with variable expressivity. The syndrome is caused by loss-of-function variants in the BCOR gene located on the X chromosome. OFCD affects only females with presumed embryonic lethality among males. We report a first case of a female with biallelic mosaic variants in BCOR gene, leading to a severe ocular phenotype including anterior segment dysgenesis, cataracts, and retinal involvement. The unique condition of biallelic mosaic loss-of-function mutations leads to a variable expression of an allele with the pathogenic variant, independent of the X-Inactivation pattern. This novel mechanism of co-existent biallelic mosaicism should be suspected in unexplained severe cases of OFCD.

01 Dec 2022·BMC PediatricsQ4 · MEDICINE

A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report

Q4 · MEDICINE

ArticleOA

Author: Mai, Jingqun ; Zhou, Bin ; Xiang, Qinqin ; Liu, Shanling ; Hu, Qian ; Wang, Jing

AbstractBackgroundOculo-facio-cardio-dental syndrome is a rare X-linked dominant syndrome, characterized by radiculomegaly, congenital cataracts, dysmorphic facial features, and congenital heart disease. Because of the rarity, this syndrome could be misdiagnosed by the clinician, especially for the infant who may present only one to two systems involved.Case presentationHere we report a 3-month-old female infant presenting with typical clinical manifestations of oculo-facio-cardio-dental syndrome, like ocular, facial, cardiac, and skeletal abnormalities, and the genetic analyses of the proband and her parents were provided. Genetic evaluations were completed using whole exon sequencing, which revealed a novel heterozygous mutation between exons 7 and 14 of the BCOR gene(OMIM:300485) in this patient but not in her parents. This mutation is likely to encode a premature stop codon producing a truncated protein. Our patient was diagnosed early enough to allow for the cardiac defects to be treated first, and she will be closely followed up to ensure that any new presentations are treated in a timeous manner.ConclusionThis patient fits the diagnostic criteria for oculo-facio-cardio-dental syndrome and is the youngest oculo-facio-cardio-dental syndrome patient ever reported, which is most important for her prognosis. In addition, this manuscript also describes a novel potenitally causative mutation for this syndrome.

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X-linked dominant chondrodysplasia Chassaing Lacombe type

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