Table 2.

Recessive mutations in the human LHX3 gene causing CPHD

	p.Y111C (Netchine et al. [16], Rajab et al. [18])	23-bp deletion (Netchine et al. [16], Rajab et al. [18])	g.159delT (Bhangoo et al. [13])	p.A210V (Pfäffle et al. [17])	p.E173Ter (Pfäffle et al. [17])	p.W224Ter (Pfäffle et al. [17])	LHX3 gene deletion (Pfäffle et al. [17])	p.K50Ter (Rajab et al. [18])	Intragenic deletion of 3,088 bp (Rajab et al. [18])	A→G splice mutation in intron 3 (Kristrom et al. [15])	p.R77Ter (Bonfig et al. [14])	p.T194R (this study)
Hormone deficiencies reported	GH, TSH, PRL, LH, FSH	GH, TSH, PRL, LH, FSH	GH, TSH, PRL, LH, FSH	GH, TSH, PRL, LH, FSH (ACTH sometimes low)	GH, TSH, PRL, LH, FSH (ACTH low)	GH, TSH, PRL, LH, FSH	GH, TSH, PRL, LH, FSH	GH, TSH, PRL, LH, FSH, ACTH	GH, TSH, PRL, LH, FSH, ACTH	GH, TSH, PRL, LH, FSH, ACTH	GH, TSH, PRL, LH, FSH, ACTH	GH, TSH, PRL, LH, FSH, ACTH
Anterior pituitary morphology	Hypoplastic	Enlarged	Hypointense pituitary lesion	Enlarged	Hypoplastic	Normal	Severely hypoplastic/aplastic	Hypoplastic	Hypoplastic	Aplastic/hypoplastic (sometimes cysts)	Hypoplastic	Hypoplastic (possible cyst)
Neck rotation	Limited	Limited	Limited	Limited	Limited	Normal	Limited	Limited	Limited	Limited	Limited	Limited
Hearing deficiencies	Moderate to mild sensorineural hearing defect	Completely deaf	Not reported	Not reported	Not reported	Not reported	Not reported	Sensorineural deafness	Sensorineural hearing defect	Sensorineural hearing defect	Sensorineural hearing defect	Sensorineural hearing defect
Mental/learning deficiencies	Not reported	Extreme mental retardation	Some mental retardation	Not reported	Not reported	Not reported	Psychomotor development is severely retarded	Not reported	Some learning difficulties	Not reported	Not reported	Not reported
Location of mutation	Missense mutation within exon 3	Deletion affecting exon 3 and splice-donor site	Deletion in exon 2	Missense mutation in exon 5	Complex mutation in exon 3	Nonsense mutation in exon 5	Complete gene deletion	Nonsense mutation in exon 2	Deletion of exons 2–5	A→G splice acceptor mutation in intron 3	Nonsense mutation in exon 2	Missense mutation in exon 4
Protein domain(s) affected	Second LIM domain	Multiple	Multiple	HD	Multiple	Loss of carboxyl terminus	Multiple	Multiple	Multiple	Multiple	Multiple	HD

Protein domains: Multiple = multiple domains affected or deleted resulting in an inactivated gene function; HD = homeodomain.