How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype

被引:0
作者
Megarbane, Andre [1 ,2 ]
Mehawej, Cybel [1 ]
Mahfoud, Daniel [3 ]
Chouery, Eliane [1 ]
Devriendt, Koenraad [4 ,5 ]
Hijazi, Mariam [1 ]
Ryu, Seung W. [6 ]
Kim, JiHye [6 ]
McNeill, Alisdair [7 ]
机构
[1] Lebanese Amer Univ, Gilbert & Rose Marie Chagoury Sch Med, Dept Human Genet, Beirut, Lebanon
[2] Inst Jerome Lejeune, Paris, France
[3] Lebanese Amer Univ, Rizk Hosp, Med Ctr, Gilbert & Rose Marie Chagoury Sch Med, Beirut, Lebanon
[4] Univ Leuven KU, Ctr Human Genet, Louvain, Belgium
[5] Univ Hosp Leuven UZ, Louvain, Belgium
[6] 3 Billion Inc, Seoul, South Korea
[7] Univ Sheffield, Sheffield Inst Translat Neurosci, Sheffield, S Yorkshire, England
关键词
Dysmorphology; Intellectual disability; Microcephaly; Scoliosis; Whole exome sequencing; INTELLECTUAL DISABILITY; VARIANTS; EXPRESSION;
D O I
10.1016/j.ejmg.2024.104944
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age. Given that TRPS had been excluded by a thorough genetic analysis, whole exome sequencing was performed and a heterozygous likely pathogenic variant was identified in the FBXO11 gene (NM_001190274.2: c.1781A > G; p. His594Arg), confirming the diagnosis of the newly individualized IDDFBA syndrome: Intellectual Developmental Disorder, dysmorphic Facies, and Behavioral Abnormalities (OMIM# 618,089). Our findings further delineate the clinical spectrum linked to FBXO11 and highlight the importance of investigating further cases with mutations in this gene to establish a potential genotype-phenotype correlation.
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页数:4
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