Dataset Information

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.

ABSTRACT: Introduction:Distal arthrogryposis type 5D (DA5D) is an autosomal recessive disease. The clinical symptoms include contractures of the joints of limbs, especially camptodactyly of the hands and/or feet, unilateral ptosis, a round-shaped face, arched eyebrows, and micrognathia, without ophthalmoplegia. ECEL1 is a DA5D causative gene that encodes a membrane-bound metalloprotease. ECEL1 plays important roles in the final axonal arborization of motor nerves in limb skeletal muscles and neuromuscular junction formation during prenatal development. Methods:A DA5D family with webbing of the elbows and fingers was recruited. We performed whole-exome sequencing (WES) and filtered mutations by disease-causing genes of arthrogryposis multiplex congenita (AMC). Mutational analysis and cosegregation confirmation were then performed. Results:We identified novel compound heterozygous mutations of ECEL1 (NM_004826: c.69C>A, p.C23? and c.1810G>A, p.G604R) in the proband. Conclusions:We detected causative mutations in a DA5D family, expanding the spectrum of known ECEL1 mutations and contributing to the clinical diagnosis of DA5D.

SUBMITTER: Jin JY

PROVIDER: S-EPMC7273484 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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The Novel Compound Heterozygous Mutations of <i>ECEL1</i> Identified in a Family with Distal Arthrogryposis Type 5D.

Jin Jie-Yuan JY Liu Dan-Yu DY Jiao Zi-Jun ZJ Dong Yi Y Li Jie J Xiang Rong R

BioMed research international 20200523

<h4>Introduction</h4>Distal arthrogryposis type 5D (DA5D) is an autosomal recessive disease. The clinical symptoms include contractures of the joints of limbs, especially camptodactyly of the hands and/or feet, unilateral ptosis, a round-shaped face, arched eyebrows, and micrognathia, without ophthalmoplegia. <i>ECEL1</i> is a DA5D causative gene that encodes a membrane-bound metalloprotease. ECEL1 plays important roles in the final axonal arborization of motor nerves in limb skeletal muscles an ...[more]

PMID: 32566668

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Project description:Developmental glaucoma, a subset of glaucoma, is associated with trabeculodysgenesis and/or anterior segment dysgenesis. It is one of the major causes of childhood blindness. Understanding its genetic background is important to diagnose, and identify potential therapeutic targets, of this disease. The present study aimed to detect the molecular origin of developmental glaucoma in a Chinese pedigree and its association with glaucomatous phenotypes. A three‑generation pedigree with developmental glaucoma was analyzed in the current study; a thorough ocular examination was performed on the proband and other individuals in the family. Genomic DNA was extracted from the peripheral blood of each individual, and possible disease‑causing genes were screened for mutations using a candidate gene panel. Exons and adjacent regions of the target genes were captured and enriched by probe hybridization. The enriched genes were sequenced on an Illumina high‑throughput sequencer. Variations were verified in other family members using Sanger sequencing. Disease causing mutations were analyzed by comparing the sequences and the structures of wild‑type and mutated cytochrome P450 family 1 subfamily B member 1 (CYP1B1) proteins using PyMOL software. The proband was diagnosed with developmental glaucoma and his parents and other relatives were asymptomatic. Novel compound heterozygous mutations, c.3G>A (p.M1I) and c.1310C>T (p.P437L), in CYP1B1 were detected in the proband, with the former inherited from his father and the latter from his mother. The c.3G>A (p.M1I) change is a novel mutation that disrupts the ATG start codon in exon one of CYP1B1 and therefore interferes with the translation start site. In conclusion, the findings of the present study suggested that the aforementioned compound heterozygous mutations in CYP1B1 may have caused developmental glaucoma in this Chinese family. The c.3G>A mutation in CYP1B1 is a novel mutation, and this study expands the gene mutation spectrum of CYP1B1.

Dataset Information

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.

Publications

The Novel Compound Heterozygous Mutations of <i>ECEL1</i> Identified in a Family with Distal Arthrogryposis Type 5D.

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