Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

Brisset, Sophie; Slamova, Zuzana; Dusatkova, Petra; Briand-Suleau, Audrey; Milcent, Karen; Metay, Corinne; Simandlova, Martina; Sumnik, Zdenek; Tosca, Lucie; Goossens, Michel; Labrune, Philippe; Zemankova, Elsa; Lebl, Jan; Tachdjian, Gerard; Sedlacek, Zdenek

doi:10.1186/1755-8166-7-17

Molecular Cytogenetics

Table 1 Clinical features in eighteen patients with 14q22q23 deletions

From: Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

Report	Nolen et al.[4]	Hayashi et al.[11]	Bakrania et al.[6]	Bakrania et al.[6]	Wyatt et al.[8]	Wyatt et al.[8]	Dateki et al.[3]	Reis et al.[7]	Delahaye et al.[13]	Lumaka et al.[10]	Lumaka et al.[10]	Lumaka et al.[10]	Lumaka et al.[10]	Pearce et al.[9]	Takenouchi et al.[12]	Present study	Present study	Present study
Patient no.	1	1	1	2	1	2	5	1	3	I-1	II-2	III-5	III-6	1	1	1	2	3
14q deletion	q22.1	q22.1	q22.3	q22.2	q22.2	q22.3	q22.3	q22.1	q22.2	q22.1	q22.1	q22.1	q22.1	q22.3	q22.2	q22.1	q22.3	q22.3
14q deletion	q23.1	q23.1	q23.2	q23.1	q22.3	q23.1	q23.1	q22.2	q23.1	q22.2	q22.2	q22.2	q22.2	q23.1	q23.1	q23.1	q23.2	q23.1
Sex	M	F	F	M	F	F	M	F	M	M	F	F	F	F	F	F	F	M
Age at last examination	5 yr	18 mo	N.D.	N.D.	19 mo	3 yr	2 yr	6 yr	24 yr	Adult	Adult	13 mo	11 mo	4 mo	3 yr	4 yr	4 yr	4 yr
Anophthamia unilateral (AOU)/bilateral (AOB); microphthalmia unilateral (MOU)/bilateral (MOB)	AOB	-	AOB	AOB	MOB	AOB	AOU/MOU	MOB	MOB	-	-	-	MOB	AOU/MOU	MOB	AOB	AOB	AOB
Optic nerve and/or chiasma and/or optic tracts hypoplasia/agenesis	+	-	+	+	N.D.	N.D.	N.D.	-	N.D.	-	-	-	N.D.	+	-	+	+	+
Cerebral and/or facial midline defects	+	-	+	+	-	-	-	-	+	-	-	+	+	+	-	+	-	-
Pituitary aplasia/hypoplasia	+	-	N.D.	+	-	-	+	-	N.D.	N.D.	N.D.	N.D.	N.D.	-	-	+	+	+
Hormonal deficiencies: growth hormone deficiency (GHD)/hypothyroidism (HT)	GHD	N.D.	HT^#	-	N.D.	N.D.	GHD	N.D.	N.D.	N.D.	N.D.	-	N.D.	-	-	GHD	GHD	GHD
Prenatal growth	Normal	Normal	N.D.	N.D.	Normal	Normal	Normal	Normal	N.D.	Normal	Normal	Retarded	Retarded	Normal	Normal	Normal	Normal	Retarded
Postnatal growth	Retarded	Retarded	N.D.	N. D.	N.D.	N.D.	Retarded	Retarded	N.D.	Normal	Retarded	Retarded	Retarded	N.A.*	Normal	Retarded	Retarded	Retarded
Microcephaly	+	-	-	+	-	-	+	-	+	-	-	-	+	+	-	-	+	-
Hearing loss/ear anomalies	+	-	-	+	-	-	N.D.	-	-	-	-	+	-	+	-	+	+	+
Undescended testes	+	N.A.	N.A.	+	N.A.	N.A.	N.D.	N.A.	-	-	N.A.	N.A.	N.A.	N.A.	N.A.	N.A.	N.A.	+
Developmental delay/intellectual disability	+	+	+	+	-	+	+	+	+	-	-	+	+	N.A.*	+	+	+	+
Polydactyly/syndactyly	+	+	-	-	-	-	-	-	-	+	+	-	+	-	-	+	-	-
Major additional extracranial symptoms								SHORT syndrome; partial lipodystrophy	Renal			-		Duodenal atresia	Profound hypotonia

N.D., not described; N.A., not applicable; *patient too young; ^#not specified if secondary (central) or primary (peripheral).
Similarly to Figure 2, this table does not list patients with deletions assessed using karyotyping in whom the genes affected are uncertain and small deletions affecting only OTX2 or BMP4 exons. The deletions in patients described by Bakrania et al., 2008 were identified using karyotyping and MLPA analysis was used to show that both deletions affected both OTX2 and BMP4.

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ISSN: 1755-8166

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