Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 → 9pter and deletion of 9q34.3

Tansatit, Montakarn; Kongruttanachok, Narisorn; Kongnak, Walaiwan; Arunpan, Suparp; Maneeshote, Pikul; Buasorn, Vanida; Praphanphoj, Verayuth; Shotelersuk, Vorasuk

doi:10.1002/ajmg.a.31424

Cited by 7 publications

(3 citation statements)

References 24 publications

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“…qter) and Patient 3 from Iwakoshi et al [2004] (trisomy 6pter) had phenotypes that did not appear significantly different from other patients with the 9qSTDS. However, other cytogenetic anomalies, in conjunction with 9q subtelomere deletions, can lead to a more severe phenotype (see Quigley et al, 2004: dup 19(p13.3); Purandare et al, 2005: r(9)p24;q34; Tansatit et al, 2006: dup 913 ! 9pter).…”

Section: The Phenotype Of the 9qstdsmentioning

confidence: 99%

The chromosome 9q subtelomere deletion syndrome

Stewart

Kleefstra²

2007

American J of Med Genetics Pt C

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The chromosome 9q subtelomere deletion syndrome (9qSTDS) is among the first and most common clinically recognizable syndromes to arise from widespread testing by fluorescent in situ hybridization (FISH) of subtelomere deletions. There are about 50 reported cases worldwide. Affected individuals invariably have severe hypotonia with speech and gross motor delay. The facial gestalt is distinct and features absolute or relative micro- or brachycephaly, hypertelorism, synophrys, and/or arched eyebrows, mid-face hypoplasia, a short nose with upturned nares, a protruding tongue with everted lower lip and down-turned corners of the mouth. Approximately half of affected individuals have congenital heart defects (primarily ASD or VSD). A significant minority have epilepsy and/or behavioral and sleep disturbances. A variety of other major and minor eye, ear, genital, and limb anomalies have been reported. Most patients have sub-microscopic deletions of the subtelomere region of chromosome 9q34.3 that range from <400 kb to >3 Mb. The 9qSTDS is caused by haplo-insufficiency of EHMT1, a gene whose protein product (Eu-HMTase1) is a histone H3 Lys 9 (H3-K9) methyltransferase. This was established by identification of three patients with features of the syndrome and either mutations or a balanced translocation in EHMT1. H3-K9 histone methylation is restricted to the euchromatin of mammals and functions to silence individual genes. Deletion size does not correlate with the severity of the 9qSTDS since patients with mutations in EHMT1 are as severely affected as those with submicroscopic deletions. Patients clinically suspected of having the 9qSTDS but with normal subtelomere deletion testing by FISH or MLPA should be considered for detailed 9q MLPA analysis and/or sequencing of EHMT1. EHMT1 is another example in the growing list of genes responsible for brain development that appear to play a role in chromatin remodeling. Published 2007 Wiley-Liss, Inc.

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Section: The Phenotype Of the 9qstdsmentioning

confidence: 99%

The chromosome 9q subtelomere deletion syndrome

Stewart

Kleefstra²

2007

American J of Med Genetics Pt C

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“…Although morbidity is known to be high in KS, mortality has been less frequently reported. Outside a single case of a 21‐year‐old with a deletion of 9q34 who died of unknown causes, seven cases of infancy/early childhood deaths have been reported (Table ) (Schimmenti et al, ; Ayyash et al, ; Stewart et al, ; Neas et al, ; Yatsenko et al, ; Tansatit et al, ; Chen et al, ). Although all seven cases with reported death had deletions of the critical region, there is no indication that patients with a deletion die at a younger age than patients with a mutation (Willemsen et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Additional clinical features often reported in KS include epilepsy, behavioral and psychiatric disorders, brain anomalies, musculoskeletal issues, male genital defects, hearing problems, recurrent infections, and obesity (Willemsen et al, 2012). Regardless of the molecular mechanism, cardiovascular and renal anomalies have been reported in 40 to 50% and 10 to 15% of patients with KS, respectively (Table 1) (Schimmenti et al, 1994;Ayyash et al, 1997;Knight et al, 1999;Dawson et al, 2002;Cormier-Daire et al, 2003;Font-Montgomery et al, 2004;Harada et al, 2004;Iwakoshi et al, 2004;Stewart et al, 2004;Kannu et al, 2005;Kleefstra et al, 2005Kleefstra et al, , 2006Kleefstra et al, , 2009Kleefstra et al, , 2012Neas et al, 2005;Sanger et al, 2005;Yatsenko et al, 2005;Tansatit et al, 2006;Stewart and Kleefstra, 2007;Nillesen et al, 2011;Verhoeven et al, 2011;Willemsen et al, 2011;Willemsen et al, 2012;Chen et al, 2013). The present case is the first report of HLHS in KS, and although renal cystic changes have been documented in a handful of cases, this also represents the first patient with acute kidney failure in the neonatal setting.…”

Section: Discussionmentioning

confidence: 99%

Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion

Campbell

Collins

Zárate

2014

Birth Defects Research

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Kleefstra syndrome is a multisystem disorder with a high frequency of congenital heart disease and less frequently, renal defects. Mortality has rarely been documented, particularly in infancy. Based on the present case and the extant literature, a routine echocardiogram and renal ultrasound should be ordered in all cases of Kleefstra syndrome. The cardiac changes seen in this patient could be the result of the haploinsufficiency of EHMT1, NOTCH1, or their combined effect.

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Tetralogy of Fallot with Absent Pulmonary Valve Syndrome

Shillingford¹

2012

Fetal Cardiovascular Imaging: A Disease Based Approach

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Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 → 9pter and deletion of 9q34.3

Cited by 7 publications

References 24 publications

The chromosome 9q subtelomere deletion syndrome

The chromosome 9q subtelomere deletion syndrome

Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion

Tetralogy of Fallot with Absent Pulmonary Valve Syndrome

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