Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

Binenbaum, Gil; McDonald‐McGinn, Donna M.; Zackai, Elaine H.; Walker, B. Michael; Coleman, Karlene; Mach, Amy M.; Adam, Margaret P; Manning, Melanie A.; Alcorn, Deborah M.; Zabel, Carrie; Anderson, Dennis R.; Forbes, Brian J.

doi:10.1002/ajmg.a.32156

Cited by 40 publications

(22 citation statements)

References 30 publications

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“…Instead, ocular findings such as sclerocornea, microphtalmia, and cataract have been described in the 22q11 deletion syndrome [Binenbaum et al, 2008;Casteels et al, 2008]. The patient here reported presented with a 2.56-2.8 Mb deletion that represents the typical 3-Mb deletion at 22q11.2 that is usually observed.…”

Section: Discussionmentioning

confidence: 91%

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

et al. 2010

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Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have been described. It is generally thought that the syndrome is transmitted by an autosomal recessive mode of inheritance, although evidence for genetic heterogeneity has recently been presented. We report on a girl followed from birth up to 3 years of life with a set of peculiar minor anomalies, arachnocamptodactyly of hands and feet, characteristic of VDEGS in association with a 22q11.12 deletion. Recently, the VDEGS gene was mapped to the DiGeorge syndrome region on 22q11.2, and homozygous mutations in the SCARF2 gene were identified. We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 splice site mutation.

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Section: Discussionmentioning

confidence: 91%

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

et al. 2010

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“…Since bulbous nasal tip, small mouth and chin are common features of the 22q11.2 deletion syndrome [Binenbaum et al, 2008], we have postulated that the facial features of our patient are in association with both conditions.…”

Section: Discussionmentioning

confidence: 97%

“…The clinical features consist of conotruncal heart malformations, palatal abnormalities, learning difficulties, thymus and parathyroid hypoplasia, and characteristic facial features including short palpebral fissures, hypoplastic ala nasi, bulbous nasal tip, small mouth and chin as well as overfolded helices [Forbes et al, 2007;Binenbaum et al, 2008].…”

confidence: 99%

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR

et al. 2018

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Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; OMIM 152950) is a rare autosomal dominantly inherited syndrome. Mutations in the kinesin family member 11 (KIF11) gene have been associated with this condition. Here, we report a de novo novel heterozygous missense mutation in exon 12 of the KIF11 gene [c.1402T>G; p.(Leu468Val)] in a boy with 22q11.2 microdeletion syndrome. His major features were microcephaly, ventricular septal defect, congenital lymphedema of the feet, and distinct facial appearance including upslanting palpebral fissures, a broad nose with rounded tip, anteverted nares, long philtrum with a thin upper lip, pointed chin, and prominent ears. His right eye was enucleated due to subretinal hemorrhage and retinal detachment at age 3 months. Lacunae of chorioretinal atrophy and the pale optic disc were present in the left eye. He also had a de novo 1.6-Mb microdeletion in the Di George/VCFS region of chromosome 22q11.2 in SNP array, which was confirmed by FISH analysis. In this study, for the first time, we describe the co-occurrence of a KIF11 mutation and 22q11.2 deletion syndrome in a patient with MCLMR.

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“…12 A n o m a l í a s a n o r r e c t a l e s , e s c o l i o s i s , esclerocórnea y microcórnea han sido también descritas por otros autores. 13,15 …”

Section: Discussionunclassified

Hallazgos clínicos en 32 pacientes con microdeleción 22q11.2 asistidos en la ciudad de Córdoba, Argentina

et al. 2013

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RESUMENLa microdeleción 22q11.2 es la más frecuente, afecta a 1/4000 a 1/6000 recién nacidos y tiene amplia variabilidad fenotípica. El diagnóstico se realiza por citogenética o hibridación in situ fluorescente (FISH) INTRODUCCIÓNLa microdeleción 22q11.2 es la causa más frecuente de microdeleción en los seres humanos y afecta a 1/4000 o 1/6000 recién nacidos vivos. En un 95% de los casos, el diagnóstico se realiza evidenciando la pérdida de material genético con técnica de FISH (hibridación in situ fluorescente). Tobías y cols. sugieren realizar la técnica de FISH para microdeleción 22q11.2 en los pacientes con cardiopatías conotruncales, o en los progenitores de los pacientes con microdeleción 22q11.2, o cuando un paciente tenga dos o más de los siguientes hallazgos clínicos: dismorfias faciales (hendiduras palpebrales cortas y hacia abajo, orejas pequeñas, nariz larga con punta bulbosa, boca pequeña, micrognatia), anomalías cardíacas no conotruncales, paladar hendido, insuficiencia velofaríngea, retraso en el desarrollo/dificultad en el aprendizaje, anomalías inmunitarias/ hipoplasia tímica. Las formas heredadas representan un 5% a 10% de los casos; para diagnosticarlas deben estudiarse los progenitores de los afectados. 4 Los objetivos del presente trabajo fueron describir las características clínicas en 32 pacientes con microdeleción 22q11.2 y los hallazgos de otras anomalías cromosómicas y síndromes genéticos en pacientes fenotípicamente similares. DESCRIPCIÓNS e r e a l i z ó u n e s t u

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Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

Cited by 40 publications

References 30 publications

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR

Hallazgos clínicos en 32 pacientes con microdeleción 22q11.2 asistidos en la ciudad de Córdoba, Argentina

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