Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.

Autor: Perrone E; Clinical Genetics Department, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Perez ABA; Clinical Genetics Department, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., D'Almeida V; Psychobiology Department, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., de Mello CB; Psychobiology Department, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Jacobina MAA; Psychobiology Department, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Loureiro RM; Department of Radiology, Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil., Burlin S; Department of Radiology, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Migliavacca M; GeneOne, DASA, São Paulo, Brazil., do Amaral Virmond L; Clinical Genetics Department, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Graziadio C; Department of Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil., Pedroso JL; Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, São Paulo, Brazil., Mendes EL; Departament of Pediatrics, Universidade Federal do Paraná, Paraná, Brazil., Gomy I; Departament of Pediatrics, Universidade Federal do Paraná, Paraná, Brazil., de Macena Sobreira NL; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1047-1058. Date of Electronic Publication: 2020 Dec 31.
DOI: 10.1002/ajmg.a.62059
Abstrakt: We aim to characterize patients with Gomez-López-Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Single-nucleotide polymorphism (SNP) array and whole-exome sequencing were undertaken; magnetic resonance imaging was performed in 12 patients, including high-resolution, heavily T2-weighted sequences (HRT2) in 6 patients to analyze the trigeminal nerves. All patients presented alopecia; two did not present rhombencephalosynapsis (RES); trigeminal anesthesia was present in 5 of the 11 patients (45.4%); brachycephaly/brachyturricephaly and mid-face retrusion were found in 84.6 and 92.3% of the patients, respectively. One patient had intellectual disability. HRT2 sequences showed trigeminal nerve hypoplasia in four of the six patients; all four had clinical signs of trigeminal anesthesia. No common candidate gene was found to explain GLHS phenotype. RES does not seem to be an obligatory finding in respect of GLHS diagnosis. We propose that a diagnosis of GLHS should be considered in patients with at least two of the following criteria: focal non-scarring alopecia, rhombencephalosynapsis, craniofacial anomalies (brachyturrycephaly, brachycephaly or mid-face retrusion), trigeminal anesthesia or anatomic abnormalities of the trigeminal nerve. Studies focusing on germline whole genome sequencing or DNA and/or RNA sequencing of the alopecia tissue may be the next step for the better understanding of GLHS etiology.
(© 2020 Wiley Periodicals LLC.)
Databáze: MEDLINE
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