A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
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DOI：
10.1002/ajmg.a.32980
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发表时间：
2009-08
影响因子：
2
通讯作者：
Shaikh, Tamim H.
中科院分区：
文献类型：
--
作者：
Haldeman-Englert, Chad R.;Naeem, Taiyabah;Geiger, Elizabeth A.;Warnock, Ashley;Feret, Holly;Ciano, Melissa;Davidson, Stefanie L.;Deardorff, Matthew A.;Zackai, Elaine H.;Shaikh, Tamim H.
高分辨率微阵列的可用性极大地改善了对患有多种先天性异常、发育迟缓和精神发育迟滞的患者的基因组重排的检测[Ming等人，2006; Stankiewicz等人，2007; Shaffer等人，2007; Sharp等人，2008年]。这些异常表型通常是由于受影响区域内一个或多个剂量敏感基因的改变。或者，缺失可以揭示非缺失等位基因上携带的常染色体隐性突变，这导致发现了以常染色体隐性方式遗传的几种遗传和生化异常[卢德洛et al.，1996; Garshasbi等人，2008; Bisgaard等人，2008年]。我们在这里描述一个男性患者与多个先天性异常谁被诊断为彼得斯加综合征（PPS）。通过微阵列分析发现他有一个杂合缺失，包括B3 GALTL基因。B3 GALTL的测序证实了先前在PPS患者中观察到的非缺失等位基因上的突变[Lesnik Oberstein et al.，2006; Kapoor等人，2008; Reis等人，2008].该患者在一个月大时接受了脑积水评估，认为是由于导水管狭窄、胼胝体变薄、角膜浑浊、面部畸形、双侧隐睾症和骶骨酒窝伴脊髓束缚造成的。由于宫内生长受限和生物物理学评分较差，他的出生史具有重要意义，在孕龄33周时，对一名23岁G4 P1 → 2女性进行了早产诱导阴道分娩（两次妊娠前三个月自发流产）。他出生时的体重和身长都在第10百分位数，头围在第80百分位数。由于存在杂音而进行的超声心动图正常，但轻度外周肺动脉狭窄除外。放射学研究包括骨骼调查，显示扁平足和脚趾等长，肾脏超声显示左肾集合系统重复。家族史无贡献。他的父母是非血亲和德国，爱尔兰，和立陶宛体面。重复遗传学评价，
The availability of high-resolution microarrays has greatly improved the detection of genomic rearrangements in patients with multiple congenital anomalies, developmental delays, and mental retardation [Ming et al., 2006; Stankiewicz et al., 2007; Shaffer et al., 2007; Sharp et al., 2008]. These abnormal phenotypes are commonly due to an alteration of one or more dosage-sensitive gene (s) within the affected region. Alternatively, deletions may unmask an autosomal recessive mutation carried on the non-deleted allele, which has led to the discovery of several genetic and biochemical abnormalities inherited in an autosomal recessive fashion [Ludlow et al., 1996; Garshasbi et al., 2008; Bisgaard et al., 2008]. We describe here a male patient with multiple congenital anomalies who was diagnosed with Peters plus syndrome (PPS). He was found to have a heterozygous deletion by microarray analysis that included the B3GALTL gene. Sequencing of B3GALTL demonstrated a mutation on the non-deleted allele that has been seen previously in PPS patients [Lesnik Oberstein et al., 2006; Kapoor et al., 2008; Reis et al., 2008].The patient was evaluated at one month of age for hydrocephalus thought to be due to aqueductal stenosis, thin corpus callosum, corneal clouding, dysmorphic facial features, bilateral cryptorchidism, and a sacral dimple with tethering of the spinal cord. His birth history was significant for a premature induced vaginal delivery at 33 weeks gestational age to a 23 yo G4P1→ 2 female (two prior first trimester spontaneous miscarriages) due to intrauterine growth restriction and poor scores on a biophysical profile. His birth weight and length were both at the 10th centile, and his head circumference was at the 80th centile. An echocardiogram performed due to the presence of a murmur was normal except for mild peripheral pulmonic stenosis. Radiological studies included a skeletal survey that revealed platybasia and toes of equal lengths, and a renal ultrasound showing duplication of the left renal collecting system. The family history was noncontributory. His parents were nonconsanguineous and of German, Irish, and Lithuanian decent. A repeat genetics evaluation at
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Reis, Linda M.;Tyler, Rebecca C.;Abdul-Rahman, Omar;Trapane, Pamela;Wallerstein, Robert;Broome, Diane;Hoffman, Jodi;Khan, Aneal;Paradiso, Christina;Ron, Nitin;Bergner, Amanda;Semina, Elena V.
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Semina, Elena V.