García-Payá Elena, Sirera Sirera Paula, Huertas-García Isabel, Hernández Romero Sofía Daniela, Olivas García Julia
Laboratory of Molecular Cytogenetics, Alicante Institute for Health and Biomedical Research, (ISABIAL), General University Hospital of Alicante, Alicante, Spain.
Cytogenet Genome Res. 2023;163(5-6):295-300. doi: 10.1159/000534530. Epub 2023 Oct 16.
Co-existence pathogenic copy number variation with aneuploidy is a rare phenomenon. Whole TBL1XR1 gene deletions are described and associated with autosomal dominant intellectual development disorder-41 (#616944). However, the phenotypical expression of the TBL1XR1 partial deletion is poorly described.
We describe the case of a male, aged 18 months, who presented delayed motor development, gait disturbance, mild generalized hypotonia, minor dysmorphic features, and growth failure, in addition to Klinefelter syndrome (KS). The single nucleotide polymorphism array revealed the de novo pathogenic interstitial deletion of chromosome 3q26.32 of 202 kb size that encompassed the first two exons of one relevant coding gene: TBL1XR1 (*608,628).
We report a male without clinical signs of KS and overlapped phenotypical features with another TBL1XR1-related disease: Pierpont syndrome (#602342). This patient extends the phenotypic spectrum of TBL1XR1 gene pathogenic variants.
致病性拷贝数变异与非整倍体共存是一种罕见现象。已有关于整个TBL1XR1基因缺失的描述，且其与常染色体显性智力发育障碍41（#616944）相关。然而，TBL1XR1部分缺失的表型表达鲜有描述。
我们描述了一名18个月大男性患者的病例，该患者除患有克兰费尔特综合征（KS）外，还出现运动发育迟缓、步态障碍、轻度全身性肌张力减退、轻微畸形特征和生长发育迟缓。单核苷酸多态性阵列显示，存在一个大小为202 kb的3号染色体q26.32区间的新生致病性间质性缺失，该缺失包含一个相关编码基因TBL1XR1（*608,628）的前两个外显子。
我们报告了一名无KS临床症状但具有与另一种TBL1XR1相关疾病——皮尔庞特综合征（#602342）重叠表型特征的男性患者。该患者扩展了TBL1XR1基因致病变异的表型谱。
