Università degli Studi di Milano, Milano, Italy.
Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy.
Clin Genet. 2024 Mar;105(3):313-316. doi: 10.1111/cge.14455. Epub 2023 Nov 22.
We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another FGFR3-related condition, LADD (Lacrimo - Auricolo - Dento - Digital) syndrome. The FGFR3 p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome.
我们报告了一例 12 岁女孩及其父亲的病例，他们均有明显的产后身材高大、指（趾）弯曲、脊柱侧凸和青少年发病的听力损失。疑似 CATSHL（Camptodactyly-Tall stature-Scoliosis- Hearing Loss 综合征）综合征，分子分析显示 FGFR3 中存在一个迄今未报道的单等位基因变异 c.1861C>T（p.Arg621Cys）。该变异影响相同的残基，但与迄今为止报道的具有显性 CATSHL 的两个家族中的变异 p.Arg621His 不同。有趣的是，在先证者中观察到了钉状切牙，这在 CATSHL 中从未报道过，但在另一种与 FGFR3 相关的疾病 LADD（泪器-耳-牙-指（趾）综合征）中很典型。FGFR3 p.Arg621Cys 变异似乎是 CATSHL 综合征的一个新的确定病因，与 LADD 综合征有一些表型重叠。
