BioMed Research International

Research Article

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

Table 1

Genetic and epigenetic alterations in the patients and correlation with their phenotype and the epigenetic syndrome associated.


Gene	KCNQ1OT1	H19	SNRPN	MEG3

OMIM#
Cytoband	11p15		15q12	14q32
Methylated allele	Maternal	Paternal	Maternal	Paternal
Disease	BWS		AS	UPD14(pat)	UPD14(mat)
OMIN#	#130650		#105830	#608149
Epigenetic alterations	Hypomethylation	Hypermethylation	Hypomethylation	Hypermethylation	Hypomethylation

Patient	1	2	3	4	5

Genetic alterations	—	arr 4p16.3(1-3,770,271) × 1 pat, 11p15.5p15.4(1-3,381,999) × 3 pat	—	UPD(14)pat arr 4p16.3(1,694,662-1,841,014) × 3 pat	UPD(14)mat arr 14q11.2(19,002,011-24,748,363) × 3 dn

Clinical features¹	Prenatal and postnatal overgrowth Macrocephaly Dolichocephaly Frontal bossing High hairline Motor delay Speech delay Intellectual disability Behavioural problems	Prenatal overgrowth Microcephaly Facial dysmorphism and asymmetry Macroglossia Umbilical hernia Hypotonia Motor delay Speech delay Intellectual disability Seizures	Prenatal and postnatal overgrowth Facial dysmorphism Motor delay Speech delay Intellectual disability	Prenatal and postnatal overgrowth Hydramnios Omphalocele Feeding difficulties Facial dysmorphism Inguinal hernia Scoliosis Brachydactyly Hypotonia Motor delay Speech delay Intellectual disability Behavioural problems	Prenatal and postnatal growth retardation Dysmorphic features Hypogenitalism Stagnation of pubertal development Psychomotor delay Speech delay Intellectual disability

Diagnosis	Sotos-like syndrome	Wolf-Hirschhorn syndrome Beckwith-Wiedemann syndrome		UPD(14)pat	UPD(14)mat

Italic features are present in the characteristic phenotype associated with the methylation alteration present in each patient. Patient 1 has been previously published at Mayo et al. [28], and clinical features of patient 5 are indicated in Monfort et al. [29].
BWS, Beckwith-Wiedemann syndrome; SRS, Silver-Russell syndrome; PWS, Prader-Willi syndrome; AS, Angelman syndrome; UPD(14)pat, paternal uniparental disomy for chromosome 14; UPD(14)mat, maternal uniparental disomy for chromosome 14.