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MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.
Am J Hum Genet. 2010 Nov 12; 87(5):679-86.AJ

Abstract

Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in autosomal-recessive Carnevale, Malpuech, Michels, and oculo-skeletal-abdominal (OSA) syndromes. The gene or genes responsible for these syndromes were heretofore unknown. We report on three individuals from two consanguineous Turkish families with findings characteristic of these syndromes, including facial dysmorphism, periumbilical depression, mixed hearing loss, radioulnar synostosis, and coccygeal appendage. Homozygosity mapping yielded an autozygous region on chromosome 3q27 in both families. In one family, whole exome sequencing revealed a missense mutation, MASP1 c.2059G>A (p.G687R), that cosegregated with the phenotype. In the second family, Sanger sequencing of MASP1 revealed a nonsense mutation, MASP1 c.870G>A (p.W290X), that also cosegregated with the phenotype. Neither mutation was found in 192 Turkish controls or 1200 controls of various other ancestries. MASP1 encodes mannan-binding lectin serine protease 1. The two mutations occur in a MASP1 isoform that has been reported to process IGFBP-5, thereby playing a critical role in insulin growth factor availability during craniofacial and muscle development. These results implicate mutations of MASP1 as the cause of a human malformation syndrome and demonstrate the involvement of MASP1 in facial, umbilical, and ear development during the embryonic period.

Authors+Show Affiliations

Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, American Recovery and Reinvestment Act
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

21035106

Citation

Sirmaci, Asli, et al. "MASP1 Mutations in Patients With Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes." American Journal of Human Genetics, vol. 87, no. 5, 2010, pp. 679-86.
Sirmaci A, Walsh T, Akay H, et al. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Hum Genet. 2010;87(5):679-86.
Sirmaci, A., Walsh, T., Akay, H., Spiliopoulos, M., Sakalar, Y. B., Hasanefendioğlu-Bayrak, A., Duman, D., Farooq, A., King, M. C., & Tekin, M. (2010). MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. American Journal of Human Genetics, 87(5), 679-86. https://doi.org/10.1016/j.ajhg.2010.09.018
Sirmaci A, et al. MASP1 Mutations in Patients With Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes. Am J Hum Genet. 2010 Nov 12;87(5):679-86. PubMed PMID: 21035106.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. AU - Sirmaci,Asli, AU - Walsh,Tom, AU - Akay,Hatice, AU - Spiliopoulos,Michail, AU - Sakalar,Yıldırım Bayezit, AU - Hasanefendioğlu-Bayrak,Aylin, AU - Duman,Duygu, AU - Farooq,Amjad, AU - King,Mary-Claire, AU - Tekin,Mustafa, Y1 - 2010/10/28/ PY - 2010/09/09/received PY - 2010/09/23/revised PY - 2010/09/29/accepted PY - 2010/11/2/entrez PY - 2010/11/3/pubmed PY - 2011/1/25/medline SP - 679 EP - 86 JF - American journal of human genetics JO - Am J Hum Genet VL - 87 IS - 5 N2 - Distinctive facial features consisting of hypertelorism, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, periumbilical defects, and skeletal anomalies are seen in autosomal-recessive Carnevale, Malpuech, Michels, and oculo-skeletal-abdominal (OSA) syndromes. The gene or genes responsible for these syndromes were heretofore unknown. We report on three individuals from two consanguineous Turkish families with findings characteristic of these syndromes, including facial dysmorphism, periumbilical depression, mixed hearing loss, radioulnar synostosis, and coccygeal appendage. Homozygosity mapping yielded an autozygous region on chromosome 3q27 in both families. In one family, whole exome sequencing revealed a missense mutation, MASP1 c.2059G>A (p.G687R), that cosegregated with the phenotype. In the second family, Sanger sequencing of MASP1 revealed a nonsense mutation, MASP1 c.870G>A (p.W290X), that also cosegregated with the phenotype. Neither mutation was found in 192 Turkish controls or 1200 controls of various other ancestries. MASP1 encodes mannan-binding lectin serine protease 1. The two mutations occur in a MASP1 isoform that has been reported to process IGFBP-5, thereby playing a critical role in insulin growth factor availability during craniofacial and muscle development. These results implicate mutations of MASP1 as the cause of a human malformation syndrome and demonstrate the involvement of MASP1 in facial, umbilical, and ear development during the embryonic period. SN - 1537-6605 UR - https://www.unboundmedicine.com/medline/citation/21035106/MASP1_mutations_in_patients_with_facial_umbilical_coccygeal_and_auditory_findings_of_Carnevale_Malpuech_OSA_and_Michels_syndromes_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(10)00518-5 DB - PRIME DP - Unbound Medicine ER -