A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

BMC Medical Genetics

Table 1 Summary of clinical and demographic findings

	Family 1	Family 2
	Patient III-2	Patient III-5	Patient III-8	Patient III-11^a
Sex	Female	Male	Female	Male
Age (years)	46	35	37	41
Height (cm)	170	178	167	180
Age of onset (years)^b	15	6	7–8	5
Hearing loss	Mild	Profound	Profound	Profound
Camptodactyly	+	+	+	+
ESR (mm/h)	70–110	45	No data	No data
Polyclonal gammopathy	Severe	Mild	Mild	–
Skin changes	No	No	No	No
IDDM	–	–	+	+
Arthropathy	+	+	+	+
Delayed puberty	Yes	Yes	No	No
CRP mg/dL	30–90	34	No data	No data
Rheumatoid arthritis	+	+	+	+
Lymph nodes	Generalized Lymphoadenopathy	No	No	No

ESR erythrocyte sedimentation rate, IDDM Insulin dependent diabetes mellitus, CRP C reactive protein
^a The patient III-11 died due to the diabetes
^b For clinical manifestations

ISSN: 1471-2350