在有或没有肛门直肠和肾脏异常的双裂鼻和马尼托巴-眼-毛-肛门综合征之间的中间表型个体中发现了新的FREM1纯合变异。

IF 0.4 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2023-01-01 DOI:10.1097/MCD.0000000000000438

Sarah Berrada, Amal Tazzite, Wafaa Bouzroud, Bouchaib Gazzaz, Mouna Lehlimi, Hind Dehbi

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Novel FREM1 homozygous variant in an individual with an intermediate phenotype between Bifid Nose with or without Anorectal and Renal Anomalies and Manitoba-oculo-tricho-anal syndromes.

Introduction The FREM1gene encodes for the Fraser Extracellular Matrix Complex Subunit 1-related extracellular matrix protein 1: FREM1 (Beck et al., 2013), which plays an important role in epidermal differentiation and adhesion during embryonic development. Protein deficiency causes a large phenotypic spectrum including Manitobaoculo-tricho-anal (MOTA) and Bifid Nose with or without Anorectal and Renal Anomalies (BNAR) syndromes. However, the phenotypic spectrum related to variants in FREM1 gene is more pleiotropic (Chacon-Camacho et al., 2017) and further investigations are needed to more accurately define it.

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.