B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

Last update 01 Nov 2024

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B-CELL IMMUNODEFICIENCY, DISTAL LIMB ANOMALIES, AND UROGENITAL MALFORMATIONS, B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations, B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome

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Introduction

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by almost complete lack of B-cells and severe hypogammaglobulinaemia, anomalies of the hands and feet, urogenital malformations and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi and micrognathia). Most patients are developmentally normal although moderate intellectual disability has also been described.

100 Clinical Results associated with B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

100 Translational Medicine associated with B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

0 Patents (Medical) associated with B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

Literatures (Medical) associated with B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

01 Aug 2023·Clinical Genetics

Revisiting TOP2B‐related phenotypes: Three new cases and literature review

Review

Author: Kayserili, Hülya ; Börklü, Esra ; Çepni, Ece ; Kalaycı, Tuğba ; Avcı, Şahin ; Eraslan, Serpil

AbstractDNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, TOP2B (MIM *126431), has been linked with three overlapping phenotypes characterized by immunodeficiency, acral and urogenital anomalies: Hoffman, BILU and Ablepharon‐macrostomia‐like syndrome. We herein report on a mother and two sons with distinct TOP2B‐phenotype. Two males reported further delineated genital phenotype of males and all reported patients were reviewed for genotype–phenotype correlation. We believe the patients reported herein along with the previously defined 11 represent a phenotypic spectrum from mild‐to‐severe immunological, acral and urogenital involvement, for which we propose the acronym “TOP2B‐related Immunodeficiency and Congenital Anomalies Spectrum (TICAS)”.

01 Apr 2019·Molecular Genetics & Genomic MedicineQ4 · MEDICINE

Identifying pathogenic variants in the Follistatin‐like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders

Q4 · MEDICINE

ArticleOA

Author: Prakash, Stuti ; Postma, Alex V. ; Mulder, Barbara J. M. ; Sylva, Marc ; Mattiotti, Andrea ; van den Hoff, Maurice J. B.

AbstractBackgroundFollistatin‐like 1 (Fstl1) is a glycoprotein expressed throughout embryonic development. Homozygous loss of Fstl1 in mice results in skeletal and respiratory defects, leading to neonatal death due to a collapse of the trachea. Furthermore, Fstl1 conditional deletion from the endocardial/endothelial lineage results in postnatal death due to heart failure and profound atrioventricular valve defects. Here, we investigated patients with phenotypes similar to the phenotypes observed in the transgenic mice, for variants in FSTL1.MethodsIn total, 69 genetically unresolved patients were selected with the following phenotypes: campomelic dysplasia (12), small patella syndrome (2), BILU (1), and congenital heart disease patients (54), of which 16 also had kyphoscoliosis, and 38 had valve abnormalities as their main diagnosis. Using qPCR, none of 69 patients showed copy number variations in FSTL1. The entire gene body, including microRNA‐198 and three validated microRNA‐binding sites, were analyzed using Sanger sequencing.ResultsNo variants were found in the coding region. However, 8 intronic variants were identified that differed significantly in their minor allele frequency compared to controls. Variant rs2272515 was found to significantly correlate (p < 0.05) with kyphoscoliosis.ConclusionWe conclude that pathogenic variants in FSTL1 are unlikely to be responsible for skeletal or atrioventricular valve anomalies in humans.

01 Dec 2004·Clinical GeneticsQ2 · MEDICINE

Autosomal dominant B‐cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) – report of a second family

Q2 · MEDICINE

Article

Author: F Goodman ; LC Wilson ; M Tischkowitz ; A Jones ; M Koliou ; P Edery ; D Webster

A family with an unusual combination of B‐cell immunodeficiency, distal limb abnormalities, genitourinary malformations, and mild dysmorphic features has recently been described. Here, we report a second family with similar features, which also shows autosomal dominant inheritance. In affected individuals from both families, sequence analysis of candidate gene HOXA13 did not identify a mutation, and there was no evidence of a microdeletion involving either HOXA13 or the HOXA cluster as a whole. We further delineate the phenotype of this condition in females and add weight to the observation that this is a true syndromic association.

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B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations

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