Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome

Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel C, Reis A, Zweier C (2018)

Publication Type: Journal article

Publication year: 2018

Journal

European Journal of Medical Genetics Elsevier

Book Volume: 61

Pages Range: 363-368

Journal Issue: 7

DOI: 10.1016/j.ejmg.2018.01.016

Abstract

3MC syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism and multiple anomalies. It is caused by biallelic mutations in one of three genes, MASP1, COLEC11 and COLEC10, all encoding factors of the lectin complement pathway. In MASP1, either truncating mutations or missense variants in exon 12 encoding the C-terminal serine protease domain specific for isoform MASP-3 are causative. By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature cleft lip/palate, and without intellectual disability, or short stature. We therefore expand the MASP1 associated mutational and clinical spectrum and describe the development of her clinical presentation over a period of 21 years. As the homozygous deletion in our patient was only found by thorough and visual evaluation of the whole exome sequencing data, such deletions might escape detection in some routine diagnostic workflows and might explain a few of the so far molecularly unconfirmed cases of 3MC syndrome.

Authors with CRIS profile

Steffen Uebe Institute of Human Genetics Arif Bülent Ekici Institute of Human Genetics Christian Thiel Medizinische Fakultät André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Christiane Zweier Lehrstuhl für Humangenetik

Involved external institutions

Julius-Maximilians-Universität Würzburg DE Germany (DE) Charité - Universitätsmedizin Berlin DE Germany (DE) Humboldt-Universität zu Berlin DE Germany (DE)

How to cite

APA:

Graul-Neumann, L.M., Mensah, M.A., Klopocki, E., Uebe, S., Ekici, A.B., Thiel, C.,... Zweier, C. (2018). Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. European Journal of Medical Genetics, 61(7), 363-368. https://dx.doi.org/10.1016/j.ejmg.2018.01.016

MLA:

Graul-Neumann, Luitgard M., et al. "Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome." European Journal of Medical Genetics 61.7 (2018): 363-368.

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